Identification of disease genes

Our focus is to identify genetic factors that cause or modify monogenic and complex diseases. Learning about the cause of a disease helps to understand, or to start to study, the subsequent disease processes and aims to develop more effective diagnostics and eventually preventive or therapeutic strategies. We use traditional linkage analyses as well as association studies either by a genome-wide approach or by testing candidate regions/genes.

In the field of monogenic diseases we are particularly interested in skeletal and neuromuscular disorders and lamin B receptor associated traits. However, the tools are also applicable for families who were referred from clinical departments and suffer from a wide spectrum of genetic traits. The identification of the underlying genetic causes assists physicians in predicting recurrence risk and prognosis of the particular trait.

Complex traits are harder to elucidate but highly relevant for public health.The traits we are working at, type 2 diabetes and hypertension, affect more than 10 % of the population and are major risk factors for cardiac attacks, stroke, renal failure, and others. Highly sophisticated technologies such as the Affymetrix 500k chip set or the Illumina Sentrix HumanHap300/550 type with 500,000 SNP markers facilitate genome-wide association studies and promise higher resolution and probably also higher power than the traditional linkage scans with microsatellite markers. To increase the power, we try to lower the genetic heterogeneity by recruiting patients from isolated or founder populations where fewer genetic variants contribute to the gene pool and thus also to the pathogenetically relevant sequence variants.

For statistical analyses, we developed the software tools easyLINKAGE and easyASSOCIATION allowing straightforward genetic analyses by users without huge experiences in statistics such as postdocs and medical doctors (like ourselves).

It is exciting to hunt down the genes but also to continue on the path studying their function. We perform our studies at the Max Planck Institute for Molecular Genetics and in our lab at the institute. For experiments in other fields we collaborate with people specialized on those topics.